Deafness and congenital structural abnormalities

Gene: CHD7

Green List (high evidence)

CHD7 (chromodomain helicase DNA binding protein 7)
EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green gene on the Bilateral microtia (Version 1.10), Ear malformations with hearing impairment (Version 0.103) and Familial hemifacial microsomia (Version 0.148) gene panels which were combined to create this panel.
Created: 14 Oct 2016, 11:20 a.m.
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:17 p.m.

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#214800:CHARGE syndrome [Postnatal growth retardation; Microcephaly; Square face; Malar flattening; Micrognathia; Facial asymmetry; Small ears; Lop ears; Cup-shaped ears; Deafness (sensorineural or mixed sensorineural and conductive); Mondini defect; Hypoplastic semicircular canals; Colobomas (iris, choroid, retina, disc, and optic nerve); Anophthalmia; Microphthalmia; Ptosis; Hypertelorism; Downslanting palpebral fissures; Posterior choanal atresia (membranous and/or bony); Anosmia; Cleft palate; Cleft lip; Tetralogy of Fallot; Atrial septal defect; Ventricular septal defect; Double-outlet right ventricle; Patent ductus arteriosus; Pulmonary valve stenosis; Rib anomalies; Umbilical hernia; Omphalocele; Tracheoesophageal fistula; Esophageal atresia; Duodenal atresia; Anal atresia; Anal stenosis; Poor feeding; Chewing/swallowing difficulties; Delayed pubertal development; Micropenis; Hypoplastic labia; Cryptorchidism; Horseshoe kidney; Hydronephrosis; Monodactyly (some); Ulnar hypoplasia (some); Tibial aplasia (some); Bifid femur (some); Radial aplasia (reported in 1 patient); Mental retardation, variable severity; Intellectual function may be high in milder cases; Balance disturbances; Facial palsy; Dysphagia; Cranial nerve anomalies; Autistic features; Growth hormone deficiency; Parathyroid hypoplasia; Gonadotropin deficiency; Hypothyroidism; Thymic hypoplasia or aplasia; T cell defect, mild to severe; Lymphopenia; Humoral defect (in some); Hypocalcemia]; #612370:Hypogonadotropic hypogonadism 5 with or without anosmia [; <omim version=1.0>; <clinicalSynopsisList>]

Publications

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CHARGE syndrome

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CHD7 were set to 15300250;10718198; 15300250; 16155193; 16169932; 16207732; 16400610; 16763960; 17334995; 17436250; 17661815; 17937444; 18074359; 18472328; 18834967; 18978652; 19279158; 20016488; 20130577; 20453063; 20591827; 21532573; 21554267; 23883829; 24728844; 25119037

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

CHD7 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN CHD7 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory CHD7 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen CHD7 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services CHD7 was added to Deafness and congenital structural abnormalitiespanel. Source: Eligibility statement prior genetic testing

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CHD7 was created by sleigh

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

CHD7 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green